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DOID:0111486 - combined oxidative phosphorylation deficiency 3
Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
Synonyms: COXPD3, Fatal mitochondrial disease due to COXPD3, concentric cardiomyopathy, hypotonia, and lactic acidosis, encephalomyopathy, respiratory failure, and lactic acidosis, fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee